Varaico: Literature-Extracted Genetic Variants

LDLR

2,667 papers

RefSeq Summary

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the ce...

Pfam Domains

Ldl_recept_aaa 25–63UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 66–104UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 107–143UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 146–184UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 195–231UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 234–270UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

low density lipoprotein receptor

HGNC Alias Symbol

LDLCQ2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000527.5

p.S820_N822del0

c.2459_2464del6

Surrounding Variants

1 paper

NM_000527.5

p.S820_V827del8

c.2458_2480del24

5 papers

NM_000527.5

p.S820N

c.2459G>A

2 papers

NM_000527.5

p.N817_I818insFs

c.2451_2452ins4

3 papers

NM_000527.5

p.N817I

c.2450A>T

1 paper

NM_000527.5

p.S820_N822del0

c.2458_2466del9

2 papers

NM_000527.5

p.N817fs

c.2449_2450fs

1 paper

NM_000527.5

p.I821I

c.2463C>A

1 paper

NM_000527.5

p.N822fs

c.2464_2465fs

5 papers

NM_000527.5

p.K816N

c.2448G>C

2 papers

NM_000527.5

p.K816N

c.2448G>T

1 paper

NM_000527.5

p.K816T

c.2447A>C

13 papers

NM_000527.5

p.K816*

c.2446A>T